Canonical Allele Identifier: CA379376030

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394240-C-G
• MyVariant Identifiers: chr11:g.6415470C>G (hg19) ; chr11:g.6394240C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394240C>G , CM000673.2:g.6394240C>G	GRCh38
NC_000011.9:g.6415470C>G , CM000673.1:g.6415470C>G	GRCh37
NC_000011.8:g.6372046C>G	NCBI36
NG_011780.1:g.8816C>G
NG_029615.1:g.30175G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1529C>G MANE Select	ENSP00000340409.4:p.Ser510Cys
ENST00000342245.8:c.1529C>G	ENSP00000340409.4:p.Ser510Cys
ENST00000526280.1:c.586C>G
ENST00000527275.5:c.1526C>G	ENSP00000435350.1:p.Ser509Cys
ENST00000531303.5:c.*380C>G	ENSP00000432625.1:n.*380C>G
ENST00000531336.1:n.517C>G
ENST00000533123.5:c.*256C>G	ENSP00000435950.1:n.*256C>G
ENST00000534405.5:c.*360C>G	ENSP00000434353.1:n.*360C>G
NM_000543.4:c.1529C>G	NP_000534.3:p.Ser510Cys
NM_001007593.2:c.1526C>G	NP_001007594.2:p.Ser509Cys
XM_005253075.3:c.*22C>G	XP_005253132.1:n.*22C>G
XM_011520303.1:c.1397C>G	XP_011518605.1:p.Ser466Cys
XM_011520304.1:c.*22C>G	XP_011518606.1:n.*22C>G
NM_001318087.1:c.*22C>G	NP_001305016.1:n.*22C>G
NM_001318088.1:c.608C>G	NP_001305017.1:p.Ser203Cys
NM_001365135.1:c.1397C>G	NP_001352064.1:p.Ser466Cys
NR_027400.2:n.1542C>G
NR_134502.1:n.1081C>G
XM_011520304.2:c.*22C>G	XP_011518606.1:n.*22C>G
XR_001747940.2:n.1714C>G
XR_002957158.1:n.1896C>G
NM_000543.5:c.1529C>G MANE Select	NP_000534.3:p.Ser510Cys
NM_001007593.3:c.1526C>G	NP_001007594.2:p.Ser509Cys
NM_001318087.2:c.*22C>G	NP_001305016.1:n.*22C>G
NM_001318088.2:c.608C>G	NP_001305017.1:p.Ser203Cys
NM_001365135.2:c.1397C>G	NP_001352064.1:p.Ser466Cys
NR_027400.3:n.1482C>G
NR_134502.2:n.1021C>G